Author

Daniel P. Birnbaum

Broad InstitutePrimary ORCID profile (0000-0002-3576-4954 · 2 papers)Unclaimed ORCID profile · follow to get notified of new preprints

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Same name, identified by ORCID

Daniel P. BirnbaumiD2 papers · Dartmouth College

Biology Disciplines

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Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Anne O’Donnell‐LuriaiD· 2 shared Ben WeisburdiD· 2 shared Beryl B. CummingsiD· 2 shared Eric Vallabh MinikeliD· 2 shared Adolfo CorreaiD· 1 shared André FrankeiD· 1 shared Andrea GannaiD· 1 shared Andrea SaltzmaniD· 1 shared

Activity by Year

2017-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenomics

Anne O’Donnell‐LuriaORCID

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2 papers

Recent·Most cited

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo S. Wang, Ryan L. Collins, Kristen M. Laricchia, Andrea Ganna, Daniel P. Birnbaum, Laura Doyle Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A. Watts, Daniel R. Rhodes, , Leif Groop

From 125,748 exomes and 15,708 genomes, 443,769 high-confidence predicted loss-of-function variants yield LOEUF, a continuous gene intolerance score tracking mouse lethality, cell essentiality, and disease associations.

Nature · May 27, 2020Peer-reviewedGenomics✦ In-depth digest

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

Colleen M. Carlston, Anne O’Donnell‐Luria, Hunter R. Underhill, Beryl B. Cummings, Ben Weisburd, Eric Vallabh Minikel, Daniel P. Birnbaum, Tatiana Tvrdik, Daniel G. MacArthur, Rong Mao

Human Mutation · Feb 23, 2017Peer-reviewedGenetics